Mutagenetix > Incidental Mutation

Incidental Mutation 'R6859:Gsap'

537799

Institutional Source

Beutler Lab

Gene Symbol

Gsap

Ensembl Gene

ENSMUSG00000039934

Gene Name

gamma-secretase activating protein

Synonyms

A530088I07Rik, Pion

MMRRC Submission

044961-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R6859 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21391253-21520130 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21486016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 653 (L653Q)

Ref Sequence

ENSEMBL: ENSMUSP00000043679 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036031] [ENSMUST00000195969] [ENSMUST00000198014] [ENSMUST00000198937]

AlphaFold

Q3TCV3

Predicted Effect

probably damaging
Transcript: ENSMUST00000036031
AA Change: L653Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000043679
Gene: ENSMUSG00000039934
AA Change: L653Q

Domain	Start	End	E-Value	Type
low complexity region	386	398	N/A	INTRINSIC
Pfam:GSAP-16	646	753	6.8e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195969

Predicted Effect

probably benign
Transcript: ENSMUST00000198014

Predicted Effect

probably damaging
Transcript: ENSMUST00000198937
AA Change: L622Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142986
Gene: ENSMUSG00000039934
AA Change: L622Q

Domain	Start	End	E-Value	Type
low complexity region	355	367	N/A	INTRINSIC
Pfam:GSAP-16	608	722	1.6e-42	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (42/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Accumulation of neurotoxic amyloid-beta is a major hallmark of Alzheimer disease (AD; MIM 104300). Formation of amyloid-beta is catalyzed by gamma-secretase (see PSEN1; MIM 104311), a protease with numerous substrates. PION, or GSAP, selectively increases amyloid-beta production through a mechanism involving its interaction with both gamma-secretase and its substrate, the amyloid-beta precursor protein (APP; MIM 104760) C-terminal fragment (APP-CTF) (He et al., 2010 [PubMed 20811458]).[supplied by OMIM, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,669,799 (GRCm39)	V788A	possibly damaging	Het
Abca15	A	T	7: 120,002,217 (GRCm39)	K1577*	probably null	Het
Arhgap12	T	C	18: 6,111,803 (GRCm39)	E187G	probably damaging	Het
Arhgef10	T	A	8: 15,025,005 (GRCm39)	Y398N	probably damaging	Het
Baz2b	C	T	2: 59,731,874 (GRCm39)	V2055I	probably benign	Het
Btnl4	T	C	17: 34,688,353 (GRCm39)	D475G	probably damaging	Het
C1qtnf12	T	A	4: 156,050,070 (GRCm39)	F190Y	probably damaging	Het
Cacul1	A	G	19: 60,522,683 (GRCm39)	S284P	probably damaging	Het
Ccdc166	C	A	15: 75,853,820 (GRCm39)	V87L	possibly damaging	Het
Ceacam13	C	T	7: 17,747,032 (GRCm39)	P162S	probably damaging	Het
Cep250	T	A	2: 155,834,446 (GRCm39)	S2124T	probably benign	Het
Chd5	T	C	4: 152,462,664 (GRCm39)	S1372P	probably damaging	Het
Chil3	C	A	3: 106,067,730 (GRCm39)	R145L	probably benign	Het
Cyp4f40	T	C	17: 32,894,923 (GRCm39)	S454P	probably benign	Het
Defa3	T	A	8: 21,778,213 (GRCm39)	C66S	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Glmp	C	A	3: 88,235,349 (GRCm39)	N260K	probably benign	Het
Il18rap	T	A	1: 40,564,255 (GRCm39)	Y124*	probably null	Het
Lao1	A	C	4: 118,820,948 (GRCm39)	K58T	probably damaging	Het
Lepr	T	A	4: 101,622,487 (GRCm39)		probably null	Het
Mrgpra3	G	C	7: 47,239,781 (GRCm39)	I48M	probably benign	Het
Nck2	T	G	1: 43,593,511 (GRCm39)	N239K	probably benign	Het
Optc	A	T	1: 133,825,554 (GRCm39)	V324E	possibly damaging	Het
Or12k7	A	T	2: 36,958,794 (GRCm39)	Y159F	probably damaging	Het
Or4p8	A	G	2: 88,727,278 (GRCm39)	I221T	probably benign	Het
Or51b6	G	A	7: 103,555,908 (GRCm39)	W84*	probably null	Het
Otog	T	C	7: 45,923,205 (GRCm39)	S1027P	probably damaging	Het
Plbd2	A	G	5: 120,641,407 (GRCm39)	F84L	probably benign	Het
Plxnb1	T	C	9: 108,935,838 (GRCm39)	L110P	probably damaging	Het
Prnp	T	C	2: 131,778,708 (GRCm39)	V120A	possibly damaging	Het
Ptprh	C	A	7: 4,552,370 (GRCm39)	E965*	probably null	Het
Reln	T	C	5: 22,239,568 (GRCm39)	T900A	probably damaging	Het
Stt3a	A	G	9: 36,646,682 (GRCm39)	Y644H	probably damaging	Het
Sulf2	A	G	2: 165,929,039 (GRCm39)	Y311H	probably damaging	Het
Tbc1d32	A	T	10: 56,056,626 (GRCm39)	I438N	probably damaging	Het
Tbcd	T	C	11: 121,387,937 (GRCm39)	V356A	possibly damaging	Het
Tecta	T	C	9: 42,303,425 (GRCm39)	N69S	probably damaging	Het
Topaz1	T	C	9: 122,631,023 (GRCm39)	V1618A	probably benign	Het
Usp48	C	T	4: 137,352,587 (GRCm39)	T627I	possibly damaging	Het
Vcl	T	C	14: 21,037,143 (GRCm39)	V247A	probably damaging	Het
Vmn2r59	A	G	7: 41,693,277 (GRCm39)	L441P	probably damaging	Het
Zfp869	C	T	8: 70,159,175 (GRCm39)	G466D	probably damaging	Het

Other mutations in Gsap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00788:Gsap	APN	5	21,459,022 (GRCm39)	missense	probably damaging	0.96
IGL00788:Gsap	APN	5	21,426,303 (GRCm39)	splice site	probably benign
IGL01344:Gsap	APN	5	21,447,881 (GRCm39)	critical splice donor site	probably null
IGL01347:Gsap	APN	5	21,431,318 (GRCm39)	missense	probably benign	0.08
IGL01618:Gsap	APN	5	21,431,246 (GRCm39)	missense	probably damaging	1.00
IGL01730:Gsap	APN	5	21,495,152 (GRCm39)	unclassified	probably benign
IGL02061:Gsap	APN	5	21,486,609 (GRCm39)	splice site	probably benign
IGL02161:Gsap	APN	5	21,458,377 (GRCm39)	missense	probably damaging	1.00
IGL02259:Gsap	APN	5	21,391,398 (GRCm39)	missense	probably benign	0.01
IGL02635:Gsap	APN	5	21,494,814 (GRCm39)	missense	probably damaging	1.00
IGL02684:Gsap	APN	5	21,447,801 (GRCm39)	critical splice acceptor site	probably null
IGL02822:Gsap	APN	5	21,422,442 (GRCm39)	missense	probably damaging	1.00
IGL03231:Gsap	APN	5	21,434,164 (GRCm39)	missense	probably damaging	0.99
PIT4305001:Gsap	UTSW	5	21,391,407 (GRCm39)	missense	probably damaging	0.98
R0012:Gsap	UTSW	5	21,431,227 (GRCm39)	splice site	probably benign
R0012:Gsap	UTSW	5	21,431,227 (GRCm39)	splice site	probably benign
R0019:Gsap	UTSW	5	21,475,620 (GRCm39)	splice site	probably benign
R0019:Gsap	UTSW	5	21,475,620 (GRCm39)	splice site	probably benign
R0045:Gsap	UTSW	5	21,431,830 (GRCm39)	missense	possibly damaging	0.77
R0054:Gsap	UTSW	5	21,455,933 (GRCm39)	splice site	probably benign
R0054:Gsap	UTSW	5	21,455,933 (GRCm39)	splice site	probably benign
R0409:Gsap	UTSW	5	21,427,443 (GRCm39)	splice site	probably benign
R0507:Gsap	UTSW	5	21,474,961 (GRCm39)	missense	possibly damaging	0.75
R0624:Gsap	UTSW	5	21,458,949 (GRCm39)	splice site	probably null
R1037:Gsap	UTSW	5	21,456,163 (GRCm39)	splice site	probably benign
R1076:Gsap	UTSW	5	21,492,692 (GRCm39)	missense	possibly damaging	0.75
R1459:Gsap	UTSW	5	21,412,236 (GRCm39)	splice site	probably benign
R1757:Gsap	UTSW	5	21,486,035 (GRCm39)	missense	probably damaging	0.98
R1852:Gsap	UTSW	5	21,495,543 (GRCm39)	splice site	probably null
R2034:Gsap	UTSW	5	21,475,593 (GRCm39)	missense	probably damaging	1.00
R2069:Gsap	UTSW	5	21,431,837 (GRCm39)	splice site	probably benign
R2125:Gsap	UTSW	5	21,447,811 (GRCm39)	missense	probably damaging	1.00
R2172:Gsap	UTSW	5	21,427,438 (GRCm39)	critical splice donor site	probably null
R2310:Gsap	UTSW	5	21,401,088 (GRCm39)	nonsense	probably null
R2337:Gsap	UTSW	5	21,493,628 (GRCm39)	missense	probably damaging	1.00
R3442:Gsap	UTSW	5	21,483,125 (GRCm39)	missense	probably damaging	1.00
R4229:Gsap	UTSW	5	21,451,975 (GRCm39)	missense	probably benign	0.00
R4271:Gsap	UTSW	5	21,431,348 (GRCm39)	critical splice donor site	probably null
R4551:Gsap	UTSW	5	21,495,569 (GRCm39)	missense	probably damaging	1.00
R4553:Gsap	UTSW	5	21,495,569 (GRCm39)	missense	probably damaging	1.00
R4649:Gsap	UTSW	5	21,431,309 (GRCm39)	missense	probably damaging	1.00
R4687:Gsap	UTSW	5	21,451,969 (GRCm39)	utr 3 prime	probably benign
R4799:Gsap	UTSW	5	21,455,941 (GRCm39)	missense	probably benign	0.05
R4857:Gsap	UTSW	5	21,492,797 (GRCm39)	splice site	probably null
R4973:Gsap	UTSW	5	21,459,037 (GRCm39)	missense	probably benign	0.04
R5015:Gsap	UTSW	5	21,427,406 (GRCm39)	missense	probably damaging	1.00
R5031:Gsap	UTSW	5	21,447,824 (GRCm39)	missense	possibly damaging	0.57
R5120:Gsap	UTSW	5	21,474,934 (GRCm39)	missense	probably damaging	0.96
R5451:Gsap	UTSW	5	21,422,445 (GRCm39)	missense	probably damaging	1.00
R5469:Gsap	UTSW	5	21,495,542 (GRCm39)	missense	possibly damaging	0.92
R5519:Gsap	UTSW	5	21,494,857 (GRCm39)	missense	probably damaging	1.00
R5588:Gsap	UTSW	5	21,456,147 (GRCm39)	missense	probably damaging	1.00
R5650:Gsap	UTSW	5	21,456,051 (GRCm39)	missense	probably damaging	0.99
R6064:Gsap	UTSW	5	21,434,223 (GRCm39)	missense	possibly damaging	0.56
R6139:Gsap	UTSW	5	21,486,538 (GRCm39)	missense	probably damaging	1.00
R6148:Gsap	UTSW	5	21,475,575 (GRCm39)	missense	probably benign	0.39
R6148:Gsap	UTSW	5	21,431,323 (GRCm39)	missense	probably damaging	1.00
R6226:Gsap	UTSW	5	21,422,429 (GRCm39)	missense	probably damaging	1.00
R6977:Gsap	UTSW	5	21,476,219 (GRCm39)	missense	probably damaging	1.00
R6995:Gsap	UTSW	5	21,476,235 (GRCm39)	missense	possibly damaging	0.58
R7013:Gsap	UTSW	5	21,483,108 (GRCm39)	missense	probably benign	0.39
R7159:Gsap	UTSW	5	21,475,618 (GRCm39)	splice site	probably null
R7181:Gsap	UTSW	5	21,458,427 (GRCm39)	missense	probably damaging	1.00
R7234:Gsap	UTSW	5	21,391,433 (GRCm39)	missense	probably benign
R7332:Gsap	UTSW	5	21,495,119 (GRCm39)	missense	probably benign	0.00
R7381:Gsap	UTSW	5	21,431,785 (GRCm39)	missense	probably damaging	0.96
R8047:Gsap	UTSW	5	21,462,866 (GRCm39)	critical splice acceptor site	probably null
R8062:Gsap	UTSW	5	21,399,461 (GRCm39)	missense	probably damaging	1.00
R8126:Gsap	UTSW	5	21,475,010 (GRCm39)	missense	probably benign	0.04
R8219:Gsap	UTSW	5	21,456,113 (GRCm39)	missense	probably benign	0.00
R8355:Gsap	UTSW	5	21,456,017 (GRCm39)	nonsense	probably null
R8472:Gsap	UTSW	5	21,427,432 (GRCm39)	nonsense	probably null
R8715:Gsap	UTSW	5	21,431,245 (GRCm39)	missense	possibly damaging	0.84
R8745:Gsap	UTSW	5	21,474,949 (GRCm39)	missense	probably benign	0.05
R8798:Gsap	UTSW	5	21,476,248 (GRCm39)	critical splice donor site	probably null
R9080:Gsap	UTSW	5	21,399,410 (GRCm39)	missense	possibly damaging	0.52
R9120:Gsap	UTSW	5	21,458,434 (GRCm39)	missense	probably damaging	1.00
R9178:Gsap	UTSW	5	21,422,471 (GRCm39)	missense	probably damaging	0.98
R9209:Gsap	UTSW	5	21,433,064 (GRCm39)	missense	probably benign	0.10
R9404:Gsap	UTSW	5	21,474,919 (GRCm39)	missense	probably damaging	1.00
Z1177:Gsap	UTSW	5	21,456,030 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGAACTACTTTCAGAAAGGCTAGTTG -3'
(R):5'- AACCATGTGCCACAGAGGAC -3'

Sequencing Primer
(F):5'- AAAGGCTAGTTGTATAGTGGGCC -3'
(R):5'- GGACAGCTGAAGTAACCTGTAATTC -3'

Posted On

2018-10-18